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September 29, 2020Frontiers in GeneticsOpen Access

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

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Key result

Rare ACE2 genetic variants were significantly more frequent in patients with severe COVID-19 compared to those with mild disease (9 vs 1 variants, p=0.018), suggesting a possible influence on disease severity.

Why the study?

To assess the influence of different classes of genetic variants in the ACE2 gene on susceptibility to COVID-19 and the severity of disease outcome.

Population

gnomAD dataset and 37 Russian patients with COVID-19

Comparison

Different classes of genetic variants in the ACE2 gene across European populations and disease severity

Design

Observational genetic analysis and cohort study

Authors

ASAnton E. ShikovAll-Russian Research Institute of Agricultural MicrobiologyYBYury A. BarbitoffResearch Institute of Obstetrics and Gynecology named after D.O. OttАGАndrey S. GlotovResearch Institute of Obstetrics and Gynecology named after D.O. Ott

Discussion

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Implication

ACE2 variants may influence COVID-19 susceptibility; leaves open clinical relevance pending larger validation studies.

Study Design

Type

Observational (n=58)

Structured PICO

P
Population
37 Russian patients with mild or severe COVID-19 and 21 healthy donors evaluated for the association between ACE2 genetic variants and disease severity.
O
Outcome
Susceptibility to COVID-19 and severity of disease outcome

Main Result

Absolute Event Rate: 9% vs 1%

p-value: p=0.018

Rare genetic variants in the ACE2 gene may partially explain individual differences in the severity of COVID-19 outcomes.

Limitations

  • Small sample size of the Russian COVID-19 cohort (37 patients and 21 controls).
  • Absence of strong statistical support for differences in missense/deleterious mutations between populations when compared to random SNP sets.
  • Limited number of identified variant sites in ACE2 in the Russian exome dataset.
  • Small number of genome samples for the SEU population in gnomAD
  • Small sample size of the Russian patient cohort (n=37)

Cite This Study

Shikov et al. (2020) conducted an observational in COVID-19 (n=58). Rare ACE2 genetic variants vs. Absence of rare ACE2 variants / mild COVID-19 was evaluated on Number of rare singleton ACE2 variants in severe vs mild COVID-19 patients (p=0.018). Rare ACE2 genetic variants were significantly more frequent in patients with severe COVID-19 compared to those with mild disease (9 vs 1 variants, p=0.018), suggesting a possible influence on disease severity.

synapsesocial.com/papers/6a6cda73439bab0cabc28962https://doi.org/10.3389/fgene.2020.551220
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1ACE2 Gene Polymorphisms Do Not Affect Outcome of Severe Acute Respiratory Syndrome2004 · 85 citations
  2. 2A polymorphism in <i>ACE2</i> is associated with a lower risk for fatal cardiovascular events in females: the MORGAM project2011 · 28 citations
  3. 3Association of ACE2 polymorphisms with susceptibility to essential hypertension and dyslipidemia in Xinjiang, China2018 · 80 citations
  4. 4The mutational constraint spectrum quantified from variation in 141,456 humans2020 · 10,449 citations
  5. 5Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications2020 · 77 citations